Spinocerebellar Ataxia Type 1

TEST CODE MG02830
TEST NAME Spinocerebellar Ataxia Type 1
RELATED GENE ATXN1
SYNONYMOUS ATXN1
OMIM 164400
HEREDITY Autosomal Dominant
CLINICAL AREA Spinocerebellar Ataxia Type 1 is an Autosomal Dominant inherited disease. Mutations in the ATXN1 gene have been associated with the disease.
METHOD Next Generation Sequencing
SAMPLE TYPE Blood with EDTA
QUANTITY 3 mL
TAT 40 DAYS

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